CAMRQ1 is an autosomal recessive genetic condition characterized by congenital onset of non-progressive cerebellar ataxia, cerebellar hypoplasia, and moderate-to-profound mental retardation. Quadrupedal locomotion has also been observed in some patients. Diagnosis is made based on clinical investigations and neuroimaging. Differential diagnosis of CAMRQ1 include Marinesco-Sjogren syndrome, which can be distinguished by elevated creatine kinase levels and progressive myopathy.
Mutations in the VLDLR (very low density lipoprotein receptor) gene are associated with CAMRQ1. VLDLR is a component of the Reelin (RELN) signalling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum.
[See: United Arab Emirates > Ali et al., 2012].